SNX9 - sorting nexin 9 Gene

Homo sapiens

Also known as SDP1; WISP; SH3PX1; SH3PXD3A

Gene ID: 51429 | Gene type: protein coding

About SNX9

Cytogenetic location: 6q25.3 Genomic coordinates (GRCh38): 6:157,823,246-157,945,077 (from NCBI)

This gene has 23 transcripts (splice variants), 252 orthologues and 15 paralogues. Ubiquitous expression in gall bladder (RPKM 27.0), esophagus (RPKM 26.7) and 25 other tissues.

Summary

This gene encodes a member of the sorting nexin family. Members of this family contain a phosphoinositide binding domain, and are involved in intracellular trafficking. The encoded protein does not contain a coiled coil region, like some family members, but does contain a Src homology domain near its N-terminus. The encoded protein is reported to have a variety of interaction partners, including of adaptor protein 2 , Dynamin, tyrosine kinase non-receptor 2, Wiskott-Aldrich syndrome-like, and ARP3 actin-related protein 3. The encoded protein is implicated in several stages of intracellular trafficking, including endocytosis, macropinocytosis, and F-actin nucleation. [provided by RefSeq, Jul 2013]

SNX9 Products(1)

mRNA	Protein	Name
NM_016224.5	NP_057308.1	sorting nexin-9

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables 1-phosphatidylinositol binding	IDA IDA: Inferred from direct assay	17948057	GOA
enables Arp2/3 complex binding	IDA IDA: Inferred from direct assay	18388313	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	18940612	GOA
enables phosphatidylinositol binding	IDA IDA: Inferred from direct assay	18388313	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10531379	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	17948057	GOA
enables ubiquitin protein ligase binding	IPI IPI: Inferred from physical interaction	20491914	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cleavage furrow formation	IMP IMP: Inferred from mutant phenotype	22718350	GOA
involved in endocytosis	IMP IMP: Inferred from mutant phenotype	22718350	GOA
involved in endosomal transport	IMP IMP: Inferred from mutant phenotype	22718350	GOA
involved in intracellular protein transport	IMP IMP: Inferred from mutant phenotype	15703209	GOA
involved in lipid tube assembly	IDA IDA: Inferred from direct assay	17948057	GOA
involved in mitotic cytokinesis	IMP IMP: Inferred from mutant phenotype	22718350	GOA
involved in plasma membrane tubulation	IDA IDA: Inferred from direct assay	18388313	GOA
involved in positive regulation of GTPase activity	IDA IDA: Inferred from direct assay	15703209	GOA
involved in positive regulation of membrane protein ectodomain proteolysis	IDA IDA: Inferred from direct assay	18353773	GOA
involved in positive regulation of protein kinase activity	IDA IDA: Inferred from direct assay	18388313	GOA
involved in protein-containing complex assembly	IDA IDA: Inferred from direct assay	15703209	GOA
involved in receptor-mediated endocytosis	IMP IMP: Inferred from mutant phenotype	15703209	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in clathrin-coated pit	IDA IDA: Inferred from direct assay	15703209	GOA
colocalizes with clathrin-coated vesicle	IDA IDA: Inferred from direct assay	15703209	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	18388313	GOA
located in cytoplasmic vesicle	IDA IDA: Inferred from direct assay	15703209	GOA
located in cytoplasmic vesicle membrane	IDA IDA: Inferred from direct assay	17948057	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	18388313	GOA
located in trans-Golgi network	IDA IDA: Inferred from direct assay	15703209	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SNX9 Protein Structure

SH3_1

BAR_3_WASP_bdg

0
100
200
300
400
500
595 a.a.

Protein Preferred Names

Protein Names

sorting nexin-9

SH3 and PX domain-containing protein 1

Related Diseases

Diseases

Alias

Wiskott-Aldrich Syndrome

WAS	Eczema-Thrombocytopenia-Immunodeficiency Syndrome
Immunodeficiency 2	Aldrich Syndrome
Imd2	Wiskott-Aldrich Syndrome 1
Was1	Wiskott Syndrome
Wiskott Aldrich Syndrome	Eczema Thrombocytopenia Immunodeficiency Syndrome
Imd 2

Trichothiodystrophy 3, Photosensitive

TTD3	Trichothiodystrophy, Complementation Group A
Ttda	Photosensitive Trichothiodystrophy 3
Trichothiodystrophy Complementation Group A

Lowe Oculocerebrorenal Syndrome

Lowe Syndrome	Oculocerebrorenal Syndrome
OCRL	Oculocerebrorenal Syndrome Of Lowe
Ocrl1	Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency
Lowe Disease	Phosphatidylinositol 4,5-Biphosphate 5-Phosphatase Deficiency
Cerebrooculorenal Syndrome	Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency
Lowe Oculo-Cerebro-Renal Dystrophy	Lowe Oculo-Cerebro-Renal Syndrome
Lowe Oculocerebrorenal Dystrophy	Low
Chromosome 11p Deletion Syndrome	Oculocerebrorenal Dystrophy
Cerebro-Oculorenal Dystrophy	Ocrl1 - [Oculocerebrorenal Syndrome]
Lowe-Terrey-Maclachlan Syndrome	Renal-Oculocerebrodystrophy

Coffin-Siris Syndrome 1

Coffin-Siris Syndrome	Fifth Digit Syndrome
Css	CSS1
Mrd12	Mental Retardation, Autosomal Dominant 12
Hhid	Dwarfism-Onychodysplasia
Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features	Autosomal Dominant Mental Retardation 12
Short Stature-Onychodysplasia.	Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx
Mental Retardation With Hypoplastic Fifth Fingernails And Toenails	Short Stature-Onychodysplasia
Coffin-Siris Syndrome, Type 1	Mental Retardation, Autosomal Dominant, Type 12

Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Charcot-Marie-Tooth Disease Type 4	Charcot-Marie-Tooth Disease Type 4e
Hereditary Motor And Sensory Neuropathy	Cmt4e
CHN1	Hypomyelinating Neuropathy, Congenital, 1
Charcot-Marie-Tooth Neuropathy Type 4e	Neuropathy, Congenital Hypomyelinating, 1
Ar-Cmt1	Autosomal Recessive Demyelinating Charcot-Marie-Tooth
Cmt4	Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive
Hypomyelination, Severe Congenital	Charcot-Marie-Tooth Disease, Type 4e
Charcot-Marie-Tooth Neuropathy, Type 4e	Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy
Autosomal Recessive Congenital Hypomyelinating Neuropathy	Congenital Amyelinating Neuropathy
Congenital Hypomyelinating Neuropathy Autosomal Recessive	Neuropathy, Congenital Hypomyelinating Or Amyelinating
Severe Congenital Hypomyelination	Hereditary Sensory Motor Neuropathy
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive	Neuropathy, Hypomyelinating, Congenital, Type 1
Neuropathy, Motor And Sensory, Hereditary	Congenital Hypomyelinating Neuropathy
Hereditary Motor And Sensory Neuropathies	Hereditary Sensorimotor Neuropathy
Hmsn - [Hereditary Motor And Sensory Neuropathy]	Hsmn - [Hereditary Sensory And Motor Neuropathy]
Hereditary Motor And Sensory Neuropathy, Types I-Iv

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-145307	DATPT		99.50%	Unkown
HY-RS13548	SNX9 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SNX9	MGD	MGI:1913866
Bos taurus	SNX9	VGNC	VGNC:35115
Rattus norvegicus	SNX9	RGD	RGD:1584466
Felis catus	SNX9	VGNC	VGNC:65560
Canis familiaris	SNX9	VGNC	VGNC:46645
Macaca mulatta	SNX9	VGNC	VGNC:77704

Name
Email *

	Sorry, but the email address you supplied was invalid.